The importance of quantifying genetic heterogeneity in ADPKD

ADPKD is the most common hereditary renal disease. New data provided in this edition of Kidney International suggests that mutations in the PKD1 and PKD2 genes may account for all cases of ADPKD. Further improvements in mutation detection methodologies are needed to determine the true relative frequ...

Descripción completa

Detalles Bibliográficos
Autor principal: Chapman, Arlene B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914150/
https://www.ncbi.nlm.nih.gov/pubmed/24487363
http://dx.doi.org/10.1038/ki.2013.371
_version_ 1782302353179803648
author Chapman, Arlene B.
author_facet Chapman, Arlene B.
author_sort Chapman, Arlene B.
collection PubMed
description ADPKD is the most common hereditary renal disease. New data provided in this edition of Kidney International suggests that mutations in the PKD1 and PKD2 genes may account for all cases of ADPKD. Further improvements in mutation detection methodologies are needed to determine the true relative frequency of PKD1 vs. PKD2 as well as to establish the value of mutation type and location to predict disease severity in this disorder.
format Online
Article
Text
id pubmed-3914150
institution National Center for Biotechnology Information
language English
publishDate 2014
record_format MEDLINE/PubMed
spelling pubmed-39141502014-08-01 The importance of quantifying genetic heterogeneity in ADPKD Chapman, Arlene B. Kidney Int Article ADPKD is the most common hereditary renal disease. New data provided in this edition of Kidney International suggests that mutations in the PKD1 and PKD2 genes may account for all cases of ADPKD. Further improvements in mutation detection methodologies are needed to determine the true relative frequency of PKD1 vs. PKD2 as well as to establish the value of mutation type and location to predict disease severity in this disorder. 2014-02 /pmc/articles/PMC3914150/ /pubmed/24487363 http://dx.doi.org/10.1038/ki.2013.371 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Chapman, Arlene B.
The importance of quantifying genetic heterogeneity in ADPKD
title The importance of quantifying genetic heterogeneity in ADPKD
title_full The importance of quantifying genetic heterogeneity in ADPKD
title_fullStr The importance of quantifying genetic heterogeneity in ADPKD
title_full_unstemmed The importance of quantifying genetic heterogeneity in ADPKD
title_short The importance of quantifying genetic heterogeneity in ADPKD
title_sort importance of quantifying genetic heterogeneity in adpkd
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914150/
https://www.ncbi.nlm.nih.gov/pubmed/24487363
http://dx.doi.org/10.1038/ki.2013.371
work_keys_str_mv AT chapmanarleneb theimportanceofquantifyinggeneticheterogeneityinadpkd
AT chapmanarleneb importanceofquantifyinggeneticheterogeneityinadpkd

Ejemplares similares